A variant (11-47315257-G-A) described in a case report for two siblings from a single Egyptian family as VUS ( Abdel-Salam (2024) J Hum Genet 69: 263 PubMed: 38459224). The same variant was identified in my patient, who has similar phenotypes. My patient family had two deceased siblings with similar phenotypes (no genetic test) and two previous abortions. Knockout mouse indicated MADD gene is essential for life. However, in the Middle Eastern population, this variant was reported in a homozygous individual in gnomAD v4.1.
The family is seeking a definitive diagnosis. Can you double-check the status of this variant, please!!